Linked Data
ClinVar Variation Id:
377399
dbSNP Id:
rs371633904
ExAC:
16:70289753 C / T
gnomAD v2:
16-70289753-C-T
gnomAD v3:
16-70255850-C-T
gnomAD v4:
16-70255850-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70255850C>T , CM000678.2:g.70255850C>T | GRCh38 |
| NC_000016.9:g.70289753C>T , CM000678.1:g.70289753C>T | GRCh37 |
| NC_000016.8:g.68847254C>T | NCBI36 |
| NG_023191.1:g.38660G>A , LRG_359:g.38660G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261772.13:c.2178-14G>A MANE Select | ENSP00000261772.8:n.2178-14G>A | |
| ENST00000564359.6:n.2151-14G>A | ||
| ENST00000565361.3:c.2178-14G>A | ENSP00000455360.3:n.2178-14G>A | |
| ENST00000674512.1:c.2157-14G>A | ENSP00000501613.1:n.2157-14G>A | |
| ENST00000674652.1:c.*1967-14G>A | ENSP00000502620.1:n.*1967-14G>A | |
| ENST00000674691.1:c.2178-14G>A | ENSP00000502247.1:n.2178-14G>A | |
| ENST00000674768.1:c.*433-14G>A | ENSP00000501679.1:n.*433-14G>A | |
| ENST00000674811.1:c.*371-14G>A | ENSP00000502055.1:n.*371-14G>A | |
| ENST00000674848.1:n.2227-14G>A | ||
| ENST00000674962.1:n.4518G>A | ||
| ENST00000674963.1:c.2178-14G>A | ENSP00000501924.1:n.2178-14G>A | |
| ENST00000675035.1:c.2158-14G>A | ENSP00000502712.1:n.2158-14G>A | |
| ENST00000675045.1:c.2205-14G>A | ENSP00000502014.1:n.2205-14G>A | |
| ENST00000675120.1:c.*488-14G>A | ENSP00000502823.1:n.*488-14G>A | |
| ENST00000675133.1:c.2151-14G>A | ENSP00000502230.1:n.2151-14G>A | |
| ENST00000675270.1:n.2313-14G>A | ||
| ENST00000675297.1:c.*530-14G>A | ENSP00000502753.1:n.*530-14G>A | |
| ENST00000675371.1:c.1993-14G>A | ENSP00000502645.1:n.1993-14G>A | |
| ENST00000675403.1:n.3098-14G>A | ||
| ENST00000675569.1:c.*1412-14G>A | ENSP00000502534.1:n.*1412-14G>A | |
| ENST00000675643.1:c.2178-14G>A | ENSP00000502797.1:n.2178-14G>A | |
| ENST00000675691.1:c.2049-14G>A | ENSP00000502196.1:n.2049-14G>A | |
| ENST00000675751.1:c.*1205-14G>A | ENSP00000502277.1:n.*1205-14G>A | |
| ENST00000675853.1:c.2178-14G>A | ENSP00000502367.1:n.2178-14G>A | |
| ENST00000675917.1:n.2475-14G>A | ||
| ENST00000675953.1:c.2094-14G>A | ENSP00000502321.1:n.2094-14G>A | |
| ENST00000675986.1:n.2336-14G>A | ||
| ENST00000676004.1:c.*2177-14G>A | ENSP00000502765.1:n.*2177-14G>A | |
| ENST00000676040.1:c.*1412-14G>A | ENSP00000502108.1:n.*1412-14G>A | |
| ENST00000676065.1:n.481G>A | ||
| ENST00000676168.1:c.1993-14G>A | ENSP00000502479.1:n.1993-14G>A | |
| ENST00000676209.1:c.*530-14G>A | ENSP00000502052.1:n.*530-14G>A | |
| ENST00000676211.1:c.*1205-14G>A | ENSP00000502726.1:n.*1205-14G>A | |
| ENST00000676212.1:c.2178-14G>A | ENSP00000501853.1:n.2178-14G>A | |
| ENST00000676247.1:c.*530-14G>A | ENSP00000502699.1:n.*530-14G>A | |
| ENST00000261772.12:c.2178-14G>A | ENSP00000261772.7:n.2178-14G>A | |
| ENST00000564359.5:n.489-14G>A | ||
| ENST00000565361.2:c.523-14G>A | ||
| ENST00000569825.1:n.184-14G>A | ||
| NM_001605.2:c.2178-14G>A , LRG_359t1:c.2178-14G>A | NP_001596.2:n.2178-14G>A | |
| XR_933220.1:n.2144-14G>A | ||
| XR_933220.3:n.2103-14G>A | ||
| NM_001605.3:c.2178-14G>A MANE Select | NP_001596.2:n.2178-14G>A |